Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival-Reference-Cited by-同舟云学术

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

Published:2020-11-09 Issue:3 Volume:29 Page:533-538
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Barcia Giulia^ORCID,Rio Marlène,Assouline Zahra,Zangarelli Coralie,Roux Charles-Joris,de Lonlay Pascale,Steffann Julie,Desguerre Isabelle,Munnich Arnold,Bonnefont Jean-Paul,Boddaert Nathalie,Rötig Agnès^ORCID,Metodiev Metodi D.^ORCID,Ruzzenente Benedetta^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-020-00757-x.pdf

Reference19 articles.

1. Klipcan L, Levin I, Kessler N, Moor N, Finarov I, Safro M. The tRNA-induced conformational activation of human mitochondrial phenylalanyl-tRNA synthetase. Structure. 2008;16:1095–104.

2. Yadavalli SS, Klipcan L, Zozulya A, Banerjee R, Svergun D, Safro M, et al. Large-scale movement of functional domains facilitates aminoacylation by human mitochondrial phenylalanyl-tRNA synthetase. FEBS Lett. 2009;583:3204–8.

3. Elo JM, Yadavalli SS, Euro L, Isohanni P, Gotz A, Carroll CJ, et al. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum Mol Genet. 2012;21:4521–9.

4. Shamseldin HE, Alshammari M, Al-Sheddi T, Salih MA, Alkhalidi H, Kentab A, et al. Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. J Med Genet. 2012;49:234–41.

5. Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He L, et al. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. Biochim Biophys Acta. 2014;1842:56–64.

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review;BMC Neurology;2024-01-02

2. Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease;Molecular Genetics and Metabolism;2023-11

3. Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia;Frontiers in Genetics;2023-04-19

4. Precision Medicine in Epilepsy Management; GET Application (Gene, Epilepsy, Treatment);Clinical Neuropharmacology;2023-03-31

5. Ataxia and spastic paraplegia in mitochondrial disease;Mitochondrial Diseases;2023